Incidental Mutation 'R6810:Ap2b1'
| ID |
533771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
044923-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83335491 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 238
(Y238F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018875
AA Change: Y276F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: Y276F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
|
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065692
AA Change: Y276F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: Y276F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176430
AA Change: Y276F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: Y276F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176523
AA Change: Y238F
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: Y238F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
|
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
|
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
|
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
|
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176944
|
| SMART Domains |
Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
199 |
3.4e-67 |
PFAM |
|
Pfam:DNA_alkylation
|
18 |
196 |
4.6e-8 |
PFAM |
|
Pfam:HEAT_2
|
88 |
185 |
3.1e-13 |
PFAM |
|
Pfam:Cnd1
|
99 |
198 |
4.2e-27 |
PFAM |
|
Pfam:HEAT
|
122 |
151 |
1.4e-5 |
PFAM |
|
| Meta Mutation Damage Score |
0.0607 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444G20Rik |
C |
T |
10: 22,066,717 (GRCm38) |
G455R |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,933,942 (GRCm38) |
T70S |
probably damaging |
Het |
| Adora1 |
T |
C |
1: 134,234,039 (GRCm38) |
Y106C |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,141,431 (GRCm38) |
N250K |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,612,220 (GRCm38) |
S2015N |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,007,654 (GRCm38) |
F581L |
probably damaging |
Het |
| Cd27 |
A |
T |
6: 125,233,664 (GRCm38) |
H203Q |
probably damaging |
Het |
| Cdk2 |
A |
G |
10: 128,699,587 (GRCm38) |
V274A |
probably benign |
Het |
| Cenpe |
A |
G |
3: 135,243,822 (GRCm38) |
T1351A |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,839,523 (GRCm38) |
L1353P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,370,693 (GRCm38) |
V945M |
probably damaging |
Het |
| Dio1 |
A |
G |
4: 107,297,725 (GRCm38) |
V118A |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,212,298 (GRCm38) |
T1818M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,814,329 (GRCm38) |
M165K |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,046,660 (GRCm38) |
I929V |
probably benign |
Het |
| F5 |
T |
A |
1: 164,186,902 (GRCm38) |
S581T |
probably damaging |
Het |
| Fanca |
A |
C |
8: 123,286,477 (GRCm38) |
I761S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,282,241 (GRCm38) |
T2549A |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,650,505 (GRCm38) |
L281P |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 35,772,579 (GRCm38) |
A143E |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,888,976 (GRCm38) |
D651G |
probably damaging |
Het |
| Hook3 |
A |
C |
8: 26,032,422 (GRCm38) |
|
probably null |
Het |
| Ivd |
G |
T |
2: 118,869,761 (GRCm38) |
V90L |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,388,356 (GRCm38) |
Y1147C |
possibly damaging |
Het |
| Mlh1 |
G |
A |
9: 111,241,558 (GRCm38) |
T363M |
possibly damaging |
Het |
| Ndufa3 |
A |
T |
7: 3,619,477 (GRCm38) |
I45F |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,241,587 (GRCm38) |
D588G |
probably damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,453,575 (GRCm38) |
N253S |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,066,755 (GRCm38) |
F552I |
probably damaging |
Het |
| Olfr1052 |
G |
A |
2: 86,297,923 (GRCm38) |
A36T |
probably benign |
Het |
| Olfr578 |
A |
C |
7: 102,984,835 (GRCm38) |
S110A |
probably damaging |
Het |
| Pcdhga12 |
T |
C |
18: 37,767,179 (GRCm38) |
S355P |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,715,873 (GRCm38) |
Y311F |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,748,725 (GRCm38) |
|
probably null |
Het |
| Plscr4 |
G |
A |
9: 92,483,836 (GRCm38) |
V120I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,310,522 (GRCm38) |
V480A |
probably benign |
Het |
| Psrc1 |
A |
T |
3: 108,385,348 (GRCm38) |
K152N |
possibly damaging |
Het |
| Ptcd3 |
A |
C |
6: 71,885,532 (GRCm38) |
V473G |
probably damaging |
Het |
| Rab11fip1 |
ACTCT |
ACT |
8: 27,152,732 (GRCm38) |
|
probably null |
Het |
| Skint6 |
T |
C |
4: 112,948,380 (GRCm38) |
|
probably null |
Het |
| Slc24a1 |
A |
G |
9: 64,948,323 (GRCm38) |
V434A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,668,610 (GRCm38) |
V432E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,942,885 (GRCm38) |
T1847M |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,553,496 (GRCm38) |
R106H |
probably benign |
Het |
| Tes |
C |
A |
6: 17,104,652 (GRCm38) |
N377K |
probably benign |
Het |
| Tfip11 |
T |
A |
5: 112,333,597 (GRCm38) |
I452N |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,637,203 (GRCm38) |
S658P |
probably benign |
Het |
| Tmx4 |
A |
C |
2: 134,620,674 (GRCm38) |
D112E |
probably damaging |
Het |
| Tnn |
G |
T |
1: 160,104,842 (GRCm38) |
D1367E |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,966,615 (GRCm38) |
N323S |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,981,033 (GRCm38) |
D582G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,380,034 (GRCm38) |
K440R |
probably benign |
Het |
| Zfp707 |
T |
A |
15: 75,974,899 (GRCm38) |
L193Q |
probably damaging |
Het |
| Zfp748 |
T |
C |
13: 67,541,725 (GRCm38) |
Y472C |
probably damaging |
Het |
|
| Other mutations in Ap2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Ap2b1
|
APN |
11 |
83,333,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01583:Ap2b1
|
APN |
11 |
83,324,611 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL01753:Ap2b1
|
APN |
11 |
83,321,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01992:Ap2b1
|
APN |
11 |
83,335,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02192:Ap2b1
|
APN |
11 |
83,346,766 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02315:Ap2b1
|
APN |
11 |
83,336,799 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03235:Ap2b1
|
APN |
11 |
83,341,384 (GRCm38) |
missense |
probably benign |
0.41 |
|
P0045:Ap2b1
|
UTSW |
11 |
83,368,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0121:Ap2b1
|
UTSW |
11 |
83,321,967 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0334:Ap2b1
|
UTSW |
11 |
83,367,874 (GRCm38) |
splice site |
probably benign |
|
|
R1222:Ap2b1
|
UTSW |
11 |
83,346,738 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1297:Ap2b1
|
UTSW |
11 |
83,333,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1653:Ap2b1
|
UTSW |
11 |
83,346,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1719:Ap2b1
|
UTSW |
11 |
83,324,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1885:Ap2b1
|
UTSW |
11 |
83,390,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1886:Ap2b1
|
UTSW |
11 |
83,390,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1965:Ap2b1
|
UTSW |
11 |
83,346,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1966:Ap2b1
|
UTSW |
11 |
83,346,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2046:Ap2b1
|
UTSW |
11 |
83,336,386 (GRCm38) |
missense |
probably benign |
0.14 |
|
R2086:Ap2b1
|
UTSW |
11 |
83,351,118 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2132:Ap2b1
|
UTSW |
11 |
83,324,761 (GRCm38) |
splice site |
probably benign |
|
|
R3615:Ap2b1
|
UTSW |
11 |
83,324,565 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R3616:Ap2b1
|
UTSW |
11 |
83,324,565 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R3983:Ap2b1
|
UTSW |
11 |
83,390,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4124:Ap2b1
|
UTSW |
11 |
83,365,645 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4125:Ap2b1
|
UTSW |
11 |
83,365,645 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4198:Ap2b1
|
UTSW |
11 |
83,342,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4202:Ap2b1
|
UTSW |
11 |
83,335,604 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4543:Ap2b1
|
UTSW |
11 |
83,324,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4583:Ap2b1
|
UTSW |
11 |
83,397,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4589:Ap2b1
|
UTSW |
11 |
83,333,011 (GRCm38) |
nonsense |
probably null |
|
|
R4916:Ap2b1
|
UTSW |
11 |
83,390,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5005:Ap2b1
|
UTSW |
11 |
83,339,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5385:Ap2b1
|
UTSW |
11 |
83,342,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5510:Ap2b1
|
UTSW |
11 |
83,336,737 (GRCm38) |
splice site |
probably null |
|
|
R5738:Ap2b1
|
UTSW |
11 |
83,336,430 (GRCm38) |
splice site |
probably null |
|
|
R6023:Ap2b1
|
UTSW |
11 |
83,335,398 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6269:Ap2b1
|
UTSW |
11 |
83,346,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6383:Ap2b1
|
UTSW |
11 |
83,346,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6416:Ap2b1
|
UTSW |
11 |
83,308,239 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R6502:Ap2b1
|
UTSW |
11 |
83,342,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6969:Ap2b1
|
UTSW |
11 |
83,389,726 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7238:Ap2b1
|
UTSW |
11 |
83,333,122 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7241:Ap2b1
|
UTSW |
11 |
83,351,105 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7429:Ap2b1
|
UTSW |
11 |
83,367,998 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7588:Ap2b1
|
UTSW |
11 |
83,324,522 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7635:Ap2b1
|
UTSW |
11 |
83,389,728 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7651:Ap2b1
|
UTSW |
11 |
83,339,430 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7753:Ap2b1
|
UTSW |
11 |
83,367,907 (GRCm38) |
nonsense |
probably null |
|
|
R8468:Ap2b1
|
UTSW |
11 |
83,351,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8943:Ap2b1
|
UTSW |
11 |
83,346,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9093:Ap2b1
|
UTSW |
11 |
83,324,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9621:Ap2b1
|
UTSW |
11 |
83,402,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Ap2b1
|
UTSW |
11 |
83,324,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ap2b1
|
UTSW |
11 |
83,365,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAAACCCTGAAGCATTACTTG -3'
(R):5'- AAGCGGTTATTCCTGGGCAAG -3'
Sequencing Primer
(F):5'- CCCTGAAGCATTACTTGATACAATG -3'
(R):5'- GCACCAGTCTATAAAGCAATCATCTG -3'
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| Posted On |
2018-09-12 |
Incidental Mutation